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Gene | CBL |
Variant | Y274F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL Y274F lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). Y274F does not impair E3 ubiquitin ligase activity and demonstrates similar levels of Egfr ubiquitination compared to wild-type Cbl in cell culture (PMID: 10635327), however, results in reduced binding to Spry2, Spry4, Egfr, and Met (PMID: 18273061) and therefore, its effect on Cbl protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL Y274F |
Transcript | NM_005188.4 |
gDNA | chr11:g.119274905A>T |
cDNA | c.821A>T |
Protein | p.Y274F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119274905A>T | c.821A>T | p.Y274F | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119274905A>T | c.821A>T | p.Y274F | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119274905A>T | c.821A>T | p.Y274F | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119274905A>T | c.821A>T | p.Y274F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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